Journal article
Axonal hyperpolarization in inclusion-body myopathy, paget disease of the bone, and frontotemporal dementia (IBMPFD)
Muscle & Nerve, Vol.44(2), pp.191-196
2011
Abstract
Introduction:
Inclusion-body myopathy, Paget disease of the bone, and frontotemporal dementia (IBMPFD) is an autosomal dominant disorder due to mutations in the valosin-containing protein (VCP) gene. Patients with this disorder may have neuropathic or myopathic features.
Methods:
Peripheral nerve function and axonal excitability were studied in three members from two families with VCP mutations (p.Arg155Leu and p.Leu198Trp).
Results:
Patients from the first family had neurogenic patterns on needle electromyography (EMG), whereas those in the second family had myopathic EMG changes. In threshold electrotonus for motor axons, the changes to depolarizing and hyperpolarizing conditioning currents were at or outside control limits in all three patients. Superexcitability was increased, and the relative refractory period was reduced. The strength–duration time constant was normal. In sensory axons of all three patients, there were similar changes in threshold electrotonus, but not in superexcitability.
Discussion:
These features are best explained by axonal hyperpolarization. The findings provide insight into the pathophysiological mechanisms in these genotypes and, possibly, into all patients with IBMPFD. Muscle Nerve, 2011
Details
- Title
- Axonal hyperpolarization in inclusion-body myopathy, paget disease of the bone, and frontotemporal dementia (IBMPFD)
- Authors/Creators
- K.R. Kumar (Author/Creator) - Kolling Institute of Medical ResearchC. Liang (Author/Creator) - Kolling Institute of Medical ResearchM. Needham (Author/Creator) - Kolling Institute of Medical ResearchD. Burke (Author/Creator) - Royal Prince Alfred HospitalC.M. Sue (Author/Creator) - Kolling Institute of Medical ResearchK. Ng (Author/Creator) - Royal Prince Alfred Hospital
- Publication Details
- Muscle & Nerve, Vol.44(2), pp.191-196
- Publisher
- John Wiley and Sons Inc.
- Identifiers
- 991005542371007891
- Copyright
- © 2011 Wiley Periodicals, Inc.
- Murdoch Affiliation
- Murdoch University
- Language
- English
- Resource Type
- Journal article
UN Sustainable Development Goals (SDGs)
This output has contributed to the advancement of the following goals:
Source: InCites
Metrics
20 Record Views
InCites Highlights
These are selected metrics from InCites Benchmarking & Analytics tool, related to this output
- Collaboration types
- Domestic collaboration
- Citation topics
- 1 Clinical & Life Sciences
- 1.79 Molecular & Cell Biology - Physiology
- 1.79.239 Ion Channelopathies
- Web Of Science research areas
- Clinical Neurology
- Neurosciences
- ESI research areas
- Neuroscience & Behavior